Publications by authors named "Rothoeft T"

With the emergence of SARS-CoV-2, various non-pharmaceutical interventions were adopted to control virus transmission, including school closures. Subsequently, the introduction of vaccines mitigated not only disease severity but also the spread of SARS-CoV-2. This study leveraged an adapted SIR model and non-linear mixed-effects modeling to quantify the impact of remote learning, school holidays, the emergence of Variants of Concern (VOCs), and the role of vaccinations in controlling SARS-CoV-2 spread across 16 German federal states with an age-stratified approach.

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Article Synopsis
  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
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Purpose: In contrast to adults, immune protection against SARS-CoV-2 in children and adolescents with natural or hybrid immunity is still poorly understood. The aim of this study was to analyze different immune compartments in different age groups and whether humoral immune reactions correlate with a cellular immune response.

Methods: 72 children and adolescents with a preceding SARS-CoV-2 infection were recruited.

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Purpose: In late 2022, a surge of severe S. pyogenes infections was reported in several European countries. This study assessed hospitalizations and disease severity of community-acquired bacterial infections with S.

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Given the crucial role of vaccination in halting the COVID-19 pandemic, it is imperative to understand the factors that motivate adolescents to get vaccinated. We surveyed adolescents and their accompanying guardians scheduled to receive a COVID-19 vaccination (Comirnaty) in an urban region in Germany in mid-2021 regarding their motivation for getting vaccinated and collected data on their sociodemographic characteristics, medical history, vaccination status, and any history of COVID-19 infection in the family. We also queried information strategies related to the SARS-CoV-2 pandemic.

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Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 (). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous  N237S variant through exome sequencing (ES).

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The number of children with tracheostomies with and without home mechanical ventilation has grown continuously in recent years. For some of these children, the need for tracheostomy resolves and the child can be weaned from the tracheal cannula. Choosing the optimal time point for decannulation after elaborated prior diagnostic work-up needs careful consideration.

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Article Synopsis
  • - The TREC-based newborn screening for severe combined immunodeficiencies (SCID) was implemented in Germany in August 2019, with assessments conducted every six months for 2.5 years to evaluate its effectiveness.
  • - Out of 1.9 million newborns screened, 88 cases of congenital T-cell lymphocytopenia were identified, including 25 SCID cases, and 88% were successfully genetically diagnosed.
  • - The newly established API-CID network enhances patient tracking and treatment, showing excellent short-term outcomes from hematopoietic stem cell transplantation, but ongoing assessments will be crucial for understanding long-term results.
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Studies in recent years and especially since the beginning of the COVID-19 pandemic have shown a significant increase in the problematic use of computer games and social media. Adolescents having difficulties in regulating their unpleasant emotions are especially prone to Problematic Internet Use (PIU), which is why emotion dysregulation has been considered a risk factor for PIU. The aim of the present study was to assess problematic internet use (PIU) in adolescents after the third wave (nearly 1.

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Evaluations after the first and second waves of the COVID-19 pandemic in Germany showed an increase in mental health problems and a reduction in health-related quality of life (HRQoL). The aim of the study was to assess those aspects after the third wave of COVID-19 in adolescents who decided to receive a vaccination. In students aged 12-17 years recruited from schools in one German region, mental health (by the strengths and difficulties questionnaire, SDQ) and HRQoL (by KIDSCREEN-10) were assessed by both a self- and parental report.

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Children's and adolescents' lives drastically changed during COVID lockdowns worldwide. To compare accident- and injury-related admissions to pediatric intensive care units (PICU) during the first German COVID lockdown with previous years, we conducted a retrospective multicenter study among 37 PICUs (21.5% of German PICU capacities).

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Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa. We previously reported that genetically corrected autologous epidermal cultures regenerated almost an entire, fully functional epidermis on a child who had a devastating form of junctional epidermolysis bullosa.

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Laminin 332-deficient junctional epidermolysis bullosa (JEB) is a severe genetic skin disease. JEB is marked by epidermal stem cell depletion, the origin of which is unknown. We show that dysregulation of the YAP and TAZ pathway underpins such stem cell depletion.

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Intestinal epithelial cells (IECs) form a fundamental mucosal barrier and actively participate in tolerance and immunity against intestinal contents. Major histocompatibility complex class II (MHC II) and invariant chain (Ii) molecules are essential for adaptive immune response. MHC II deficiency often presents with gastrointestinal disorders.

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Background: Acute viral bronchiolitis is a frequent disease in infancy. There is little knowledge on medical care of severely affected infants in different European countries.

Patients: Infants (n=146) with bronchiolitis requiring respiratory support in winter season 2015/2016 treated in either one of two regions in Central Europe: South of greater Paris region in France (group 1) and Ruhr area in Germany (group 2).

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Junctional epidermolysis bullosa (JEB) is a severe and often lethal genetic disease caused by mutations in genes encoding the basement membrane component laminin-332. Surviving patients with JEB develop chronic wounds to the skin and mucosa, which impair their quality of life and lead to skin cancer. Here we show that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB.

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Background: Only sparse data exist about children with septic shock in Europe. The present study aimed to evaluate demographics, treatment, outcome and risk factors for mortality in Western Germany.

Patients: Children with septic shock aged 2 months to 17 years.

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Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.

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In 2009, a federally funded clinical and research consortium (PID-NET, http://www.pid-net.org) established the first national registry for primary immunodeficiencies (PID) in Germany.

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Background: Subglottic haemangioma causes progressive and life-threatening stridor, typically manifesting at age 2-3 months. Standard diagnosis is by laryngoscopy. Larynx sonography is rarely used but allows assessment of the presence and extension of a mass that impinges on the subglottic airway.

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Despite as yet limited clinical effectiveness, dendritic cell (DC)-based immunotherapy remains a promising approach for the treatment of cancer, but requires further improvement in its immunostimulatory effectiveness. Potent anti-tumor immunity often depends on the induction of type 1 (T(H)1) immune responses. Therefore, we combined different DC maturation stimuli that are known to induce T(H)1 immunity [anti-CD40, interleukin (IL)-12, IL-18], with the aim to trigger a T(H)1 driven anti-tumor CTL response.

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In vitro studies have contributed substantially to the understanding of immunopathology of respiratory syncytial virus (RSV)-mediated disease. In the present study we compared the effect of RSV-infected dendritic cells on the time-course of the primary and memory/effector T cell response in vitro. Cultures with uninfected dendritic cells known to elicit T helper 2 (Th2) responses and with polyinosinic-polycytidylic acid (poly-IC)-stimulated dendritic cells known to elicit Th1 responses served as controls.

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The adaptive immune response is initiated when naive T cells interact with dendritic cells (DC). However, the physicodynamics as well as the molecules that constitute the contact plane (immunological synapse) between DC and T cells are not well understood. We show here that for the formation of stable conjugates, T cells need to be preactivated by DC in a CD80/86- and antigen dose-dependent manner.

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